banner
Genes Phenotypes Help, News, Blog

Gene: Id1 MGI:96396

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inhibitor of DNA binding 1, HLH protein
Synonyms:
D2Wsu140e,  bHLHb24,  Idb1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Id1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Id1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Drug Metabolism, Poor, Cyp2D6-Related
Neoplasm OMIM:608902
Adamantinoma Of Long Bones
Neoplasm OMIM:102660
Cancer, Familial, With In Vitro Radioresistance
Neoplasm OMIM:114450
Multiple Self-Healing Squamous Epithelioma, Susceptibility To
Neoplasm OMIM:132800
Nasopharyngeal Carcinoma, Susceptibility To, 2
Neoplasm OMIM:161550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Hypertension, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Forsythe-Wakeling Syndrome
Delayed skeletal maturation, Osteoporosis, Thrombocytopenia OMIM:613606
Mazabraud Syndrome
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures ORPHA:57782
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ... ORPHA:486
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple... OMIM:612387
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Immunodeficiency 15B
Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod... OMIM:615592
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... OMIM:611490
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay
Osteopenia, Recurrent fractures OMIM:619884
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Restrictive ventilatory defec... ORPHA:210136
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... ORPHA:220402
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Thrombocytopenia OMIM:614727
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Recurrent fractures, Increased circulating IgE level,... OMIM:147060
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Thrombocytopenia OMIM:610539
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Bone pain,... ORPHA:98850
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Recurrent fractures, Anemia OMIM:618107
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo... OMIM:301078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Osteoporosis
Osteoporosis OMIM:166710
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Winchester Syndrome
Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615271
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:2787
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Decreased DLCO, Pulmonary fibrosis, Cough, Reticular pattern on pulmonary HRCT... OMIM:614742
Indolent Systemic Mastocytosis
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... ORPHA:98848
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Idiopathic Pulmonary Hemosiderosis
Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Heart murmur, ... ORPHA:99931
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Increased spinal bone density, Bone pain, Recurrent fractures ORPHA:329475
Hypergonadotropic Hypogonadism-Cataract Syndrome
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2410
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Monosomy 5P
Joint hyperflexibility, Recurrent fractures, Abnormality of bone mineral density ORPHA:281
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea ORPHA:254361
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... ORPHA:77259
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Pathologic fracture, Bone cyst OMIM:618193
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr... OMIM:130060
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... ORPHA:81
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Scedosporiosis
Bronchial breath sound, Sinusitis, Pericarditis, Pneumonia, Bronchitis, Abnormal respiratory syst... ORPHA:449280
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci... OMIM:619752
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia... OMIM:613989
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Osteoporosis ORPHA:79301
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Aspergillosis
Sinusitis, Pneumonia, Hypersensitivity pneumonitis, Dyspnea, Chronic pulmonary obstruction, Asthm... ORPHA:1163
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... OMIM:259700
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Hermansky-Pudlak Syndrome 4
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Essential Thrombocythemia
Myelofibrosis, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology, Acute leu... ORPHA:3318
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Familial Expansile Osteolysis
Pathologic fracture, Bone pain, Osteolysis, Thin bony cortex OMIM:174810
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leu... OMIM:620210
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Pulmonary fibrosis OMIM:615704
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Raynaud pheno... ORPHA:79128
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Familial Hyperprolactinemia
Osteopenia, Osteoporosis ORPHA:397685
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Recurrent fractures ORPHA:417
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis OMIM:257200
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 12
Abnormal lymphocyte count, Delayed skeletal maturation, Osteoporosis, Absent isohemagglutinin lev... OMIM:615468
Sialidosis Type 2
Splenomegaly, Flexion contracture, Osteoporosis ORPHA:87876
Propionic Acidemia
Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia OMIM:606054
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis OMIM:619971
Hypophosphatasia
Craniosynostosis, Recurrent fractures, Anemia ORPHA:436
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Rothmund-Thomson Syndrome, Type 1
Delayed skeletal maturation, Osteoporosis OMIM:618625
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture... OMIM:259450
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Osteoporosis OMIM:616033
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm... ORPHA:848
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... OMIM:619802
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... OMIM:610967
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Prieto Syndrome
Osteoporosis OMIM:309610
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures ORPHA:2324
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,... OMIM:613990
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Osteoporosis ORPHA:319195
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures ORPHA:2788
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis ORPHA:52047
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia ORPHA:2169
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615267
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Osteogenesis Imperfecta, Type Xix
Osteopenia, Joint hypermobility, Recurrent fractures, Multiple prenatal fractures OMIM:301014
Juvenile Paget Disease
Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow... OMIM:127550
Wt Limb-Blood Syndrome
Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a... OMIM:194350
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow... ORPHA:47612
Idiopathic Juvenile Osteoporosis
Bone pain, Osteoporosis, Recurrent fractures ORPHA:85193
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary fibrosis, Pulmonary arte... ORPHA:220393
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... OMIM:620326
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Bone pain, Osteolysis, ... ORPHA:73
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr... OMIM:259410
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Delayed skeletal maturation, Abnormality of thrombocytes, Reduced bone mineral density ORPHA:172
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Delayed skeletal maturation, Bone pai... ORPHA:77261
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Pulmonary fibrosis OMIM:618394
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis, Myocardial infarction ORPHA:457240
Sengers Syndrome
Osteopenia, Thrombocytopenia OMIM:212350
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia OMIM:612562
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular... OMIM:612199
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Eosinophilia, Craniosynostosis, Recurrent fractures, Increased circula... ORPHA:2314
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dyskinesia, Pulmonary insuff... OMIM:614017
Pulmonary Alveolar Microlithiasis
Bronchitis, Right ventricular failure, Respiratory tract infection, Nonproductive cough, Pleural ... ORPHA:60025
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... ORPHA:444463
Osteogenesis Imperfecta, Type Ix
Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif... OMIM:259440
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Hypophosphatasia, Infantile
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Unossi... OMIM:241500
Malaria
Anemia, Thrombocytopenia ORPHA:673
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Generalized osteoporosis OMIM:613849
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Arthritis, A... ORPHA:229717
Classic Galactosemia
Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density ORPHA:79239
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Mycetoma
Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab... ORPHA:2583
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Restrictive ventilatory defect, Pulmonary fibrosis OMIM:619767
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Recurrent pneumonia, Chronic pulmonary obstruction, Bronchiecta... OMIM:618986
Babesiosis
Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia ORPHA:108
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures OMIM:126550
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Nasu-Hakola Disease
Bone cyst, Bone pain, Limitation of joint mobility, Reduced bone mineral density, Acute leukemia ORPHA:2770
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Bruck Syndrome
Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:2771
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Typhoid
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abnormal pulmonary interstitial morpholog... ORPHA:99745
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Perrault Syndrome 1
Osteoporosis OMIM:233400
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Intraventricular hemorrhag... ORPHA:420741
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... ORPHA:97287
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, Avascular necr... OMIM:230800
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Osteoporosis ORPHA:369
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed skeletal maturation, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:617974
Hall-Riggs Syndrome
Delayed skeletal maturation, Osteoporosis OMIM:234250
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Lysinuric Protein Intolerance
Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Anemia, Leukopenia,... OMIM:222700
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Dyspnea, Myocarditis, Abnormal pulmonary interstitial ... ORPHA:809
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures ORPHA:52430
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia... OMIM:612394
Variant Abeta2M Amyloidosis
Knee pain, Pathologic fracture, Multiple bony cystic lesions, Wrist pain ORPHA:314652
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Osteopenia, Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision ci... OMIM:617341
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Raynaud phenomenon, Tachypnea, Telangiectasia, Pulmonary fibrosis OMIM:615934
Hjv Or Hamp-Related Hemochromatosis
Osteoporosis ORPHA:79230
Dermatitis Herpetiformis
Bone pain, Recurrent fractures, Microcytic anemia ORPHA:1656
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures ORPHA:2772
Cranioectodermal Dysplasia
Joint hyperflexibility, Osteoporosis, Craniosynostosis ORPHA:1515
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis OMIM:152700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Rapidly Involuting Congenital Hemangioma
Avascular necrosis, Thrombocytopenia ORPHA:141184
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Bone pain, A... ORPHA:2796
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:614880
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... OMIM:150550
Solitary Bone Cyst
Pathologic fracture, Bone pain, Unicameral bone cyst ORPHA:83468
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Increased circula... ORPHA:507
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Analbuminemia
Osteoporosis OMIM:616000
Hermansky-Pudlak Syndrome 1
Epistaxis, Hematochezia, Restrictive ventilatory defect, Cardiomyopathy, Pulmonary fibrosis OMIM:203300
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:600081
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Pathologic fracture, Bone cyst OMIM:221770
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... ORPHA:2909
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Achondrogenesis Type 1A
Recurrent fractures, Abnormal enchondral ossification ORPHA:93299
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero... OMIM:602080
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Osteogenesis Imperfecta, Type Xi
Osteopenia, Recurrent fractures, Joint laxity, Increased susceptibility to fractures OMIM:610968
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Osteoporosis ORPHA:529665
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Wide anterior ... OMIM:259420
Wilson Disease
Splenomegaly, Bone pain, Anemia, Arthritis, Pathologic fracture, Thrombocytopenia ORPHA:905
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones ORPHA:93351
Marshall-Smith Syndrome
Craniosynostosis, Accelerated skeletal maturation, Increased susceptibility to fractures, Reduced... ORPHA:561
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:603909
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Arthritis, Co... OMIM:304790
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Bone pain, Osteolysis, Abnormal bone structure, Coa... ORPHA:93160
Werner Syndrome
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density OMIM:277700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... ORPHA:371428
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu... OMIM:212750
Hemochromatosis, Type 3
Arthritis, Lymphopenia, Anemia, Neutropenia OMIM:604250
Cerebrooculofacioskeletal Syndrome 1
Flexion contracture, Osteoporosis, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:214150
Immunodeficiency 13
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... OMIM:615518
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Recurrent fractures, Joint hypermobility OMIM:619131
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemochromatosis, Type 1
Splenomegaly, Osteoporosis OMIM:235200
Osteogenesis Imperfecta, Type Iv
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Recurrent fract... OMIM:166220
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Recurrent fractures, Joint hypermobility, Reduced bone mineral density OMIM:619115
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased c... OMIM:613011
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Recurrent fractures, Reduced bone mineral density ORPHA:137608
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... OMIM:300554
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Osteootohepatoenteric Syndrome
Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Anemia, Reduced bone mi... OMIM:619377
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My... ORPHA:90291
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturation, Fibrous dysplas... ORPHA:562
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:241530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Pulmonary fibrosis OMIM:619510
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone pain, Abnormal mean c... ORPHA:86839
Blue Rubber Bleb Nevus
Iron deficiency anemia, Pathologic fracture, Thrombocytopenia OMIM:112200
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Anemia of inadequate production, Splenomegaly, Delayed skeletal maturation, Calvarial... OMIM:612714
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste... ORPHA:2848
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis, Cili... OMIM:610852
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... ORPHA:101096
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decr... OMIM:242900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Progressive Pseudorheumatoid Dysplasia
Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ... OMIM:208230
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Increased susceptibility to fr... ORPHA:289157
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bone pain, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture ORPHA:157215
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Delayed skeletal maturation... ORPHA:391487
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Portal hypertension, Pulmonary fibrosis, Cough, Recurrent aspir... ORPHA:79124
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Delayed skeletal maturation, Persistence of hemoglobin F, A... OMIM:260400
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Maffucci Syndrome
Bone pain, Recurrent fractures, Osteolysis ORPHA:163634
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Bone pain, Decreased circulating antib... ORPHA:29073
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... OMIM:612852
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... OMIM:263700
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... ORPHA:221
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... OMIM:231070
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets OMIM:613388
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent... ORPHA:900
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density ORPHA:2235
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Juvenile rheumatoid arthritis, Abnormal natu... ORPHA:158061
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip... ORPHA:85212
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Osteomyelitis, Agammaglobulinemia, Anemia, Arthritis, Neut... ORPHA:47
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary int... OMIM:620233
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
Dyskeratosis Congenita
Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo... ORPHA:1775
Immune-Mediated Necrotizing Myopathy
Raynaud phenomenon, Congestive heart failure, Myocarditis, Abnormal pulmonary interstitial morpho... ORPHA:206569
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Pleural effusion, Recurrent pneumonia, Pulmonary fibrosis OMIM:618935
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis ORPHA:77296
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Bone pain, Decreased eosinophil count, Lymphopenia, Tooth a... ORPHA:2686
Geroderma Osteodysplastica
Joint hyperflexibility, Osteoporosis, Recurrent fractures, Abnormal bone ossification ORPHA:2078
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... OMIM:618048
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenomegaly, Leukocy... OMIM:259720
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Avascular necrosis of the capital femoral epiphysis, Limitation of joint mobili... ORPHA:93315
Castleman Disease
Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Microcytic anemia, T lymphocytopenia, Generalized osteop... ORPHA:2959
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Recurrent fractures OMIM:620368
Farber Disease
Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Thrombocytopenia ORPHA:333
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Cinca Syndrome
Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Reduced bone... ORPHA:1451
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Reduced bone mineral density, Coronal craniosynostosis, Orbital ... OMIM:112240
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Hepatosplenomegaly, Inc... ORPHA:763
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Avas... ORPHA:83451
Bone Marrow Failure Syndrome 5
Pulmonary fibrosis OMIM:618165
Spondylo-Ocular Syndrome
Joint hyperflexibility, Osteoporosis ORPHA:85194
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduce... ORPHA:18
H Syndrome
Recurrent fractures, Microcytic anemia, Delayed skeletal maturation, Osteolysis, Hepatosplenomega... ORPHA:168569
Erdheim-Chester Disease
Dyspnea, Congestive heart failure, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... ORPHA:35687
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Bone pain, Pathologic fracture, Increased susceptibility to fract... ORPHA:352540
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,... OMIM:277440
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Localized osteoporosis, Lower limb pain ORPHA:199354
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Abnormal pulmonary interstitial morphology, Cough OMIM:619013
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Menkes Disease
Joint laxity, Osteoporosis OMIM:309400
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Gaucher Disease
Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joi... ORPHA:355
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Recurrent fractures, Craniosynostosis ORPHA:251004
Transaldolase Deficiency
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Rhyns Syndrome
Osteopenia, Delayed skeletal maturation, Osteoporosis OMIM:602152
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Advanced ossification of carpal bones, Increased susceptibility to frac... OMIM:615349
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, O... ORPHA:1901
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Glycogen Storage Disease Ib
Splenomegaly, Osteoporosis, Gout, Neutropenia OMIM:232220
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Intermediate Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171433
Odontochondrodysplasia 1
Delayed ossification of carpal bones, Osteoporosis, Joint hypermobility OMIM:184260
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia, Bone ... ORPHA:381
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... OMIM:300009
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Pulmon... ORPHA:29207
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Adamantinoma
Pathologic fracture, Bone pain ORPHA:55881
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Fractured radius, Multiple prenatal fractures, Flexion contracture, Decreased skull o... OMIM:616897
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Shoulder flexion contracture, Delayed skeletal maturation, Osteoporosis, Joint c... OMIM:255800
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Delayed skeletal maturation, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Stiff interphalangeal joints ORPHA:465508
Cantu Syndrome
Delayed skeletal maturation, Osteoporosis OMIM:239850
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Accelerated skeletal maturation, Splenomegaly, Flexion contracture, Osteoporosis, Dec... OMIM:613327
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory failure, Pulmonary fibrosis, Respiratory insufficiency OMIM:607625
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... ORPHA:277
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Delayed skeletal maturation, Fi... ORPHA:221016
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Osteoporosis OMIM:615830
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Von Willebrand Disease, Type 3
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Sarcoidosis, Susceptibility To, 1
Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Restri... OMIM:181000
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Preeclampsia
Thrombocytopenia ORPHA:275555
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Osteoporosis, Anemia ORPHA:79240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Anemia ORPHA:264580
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Recurrent fractures OMIM:616833
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Osteoporosis, Generalized osteoporosis OMIM:236200
Cole-Carpenter Syndrome 2
Osteopenia, Coronal craniosynostosis, Recurrent fractures, Lambdoidal craniosynostosis OMIM:616294
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital th... OMIM:605432
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Joint contracture, Osteoporosis OMIM:615381
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar... ORPHA:1822
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Ivic Syndrome
Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones ORPHA:2307
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Chronic neutropenia, Osteoporosis, Gout, Increased susceptibility to fractures, Abnor... ORPHA:79259
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Bone pain, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Anemia, Hepatosplenomegaly OMIM:619487
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Osteoarthritis, Generalized joint laxity, Osteoporosis, Cervical C2/C3 vertebral fusi... OMIM:618000
Amish Lethal Microcephaly
Decreased skull ossification, Osteoporosis, Limitation of joint mobility ORPHA:99742
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter... ORPHA:93284
Lysinuric Protein Intolerance
Osteopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, De... ORPHA:470
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skeletal maturation... ORPHA:77293
Hyperparathyroidism, Transient Neonatal
Osteopenia, Recurrent fractures, Subperiosteal bone formation, Splenic cyst, Fractured rib OMIM:618188
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed skeletal maturation, Osteoporosis ORPHA:73272
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Osteoporosis, Recurrent fractures, Reduced bone mineral density OMIM:616507
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Recurrent fractures, Multiple prenatal fractures OMIM:166210
Desbuquois Dysplasia 1
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... OMIM:251450
Mccune-Albright Syndrome
Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture OMIM:174800
Hamamy Syndrome
Osteopenia, Recurrent fractures, Craniosynostosis, Microcytic anemia, Hypochromic anemia OMIM:611174
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Decreased calvarial ossification, Recurrent fractures, Joint hypermobility OMIM:616229
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Polycythemia Vera
Myelofibrosis, Splenomegaly, Acute leukemia ORPHA:729
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Delayed skeletal maturation, Osteoporosis OMIM:616200
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Bone marrow hypocellularit... ORPHA:2785
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616867
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Fibular Hemimelia
Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob... ORPHA:93323
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Dyspnea, Nonproductive cough, Jaw claudication, Abnorm... ORPHA:85443
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th... OMIM:259100
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Flexion contracture, Anemia, Arthritis, Increased circulating antibody level, Lymph... OMIM:617591
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... OMIM:610915
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis OMIM:219080
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera... ORPHA:85435
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul... OMIM:618278
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis OMIM:610475
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Marked delay in bone age ORPHA:785
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Dyspnea, Cardiomyopathy, Pulmonary fibrosis ORPHA:79430
Pediatric-Onset Graves Disease
Craniosynostosis, Accelerated skeletal maturation, Splenomegaly, Neutropenia in presence of anti-... ORPHA:525731
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Delayed skeletal maturation, Osteoporosis, Lambdoidal craniosynostosis OMIM:615398
Kaposiform Lymphangiomatosis
Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal splee... ORPHA:464329
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
Pseudohypoparathyroidism, Type Ia
Subcutaneous ossification, Osteoporosis OMIM:103580
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Osteoporosis OMIM:615851
Brittle Cornea Syndrome
Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Al-Gazali Syndrome
Osteopenia, Proximal radio-ulnar synostosis, Wrist flexion contracture, Recurrent fractures OMIM:609465
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Greenberg Dysplasia
Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio... OMIM:215140
Oculocerebral Hypopigmentation Syndrome, Preus Type
Reduced bone mineral density, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Osteoporosis, Accelerated skeletal maturation OMIM:617190
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia, Arthritis ORPHA:448237
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Overlap Myositis
Limb pain, Leukopenia, Arthritis, Rheumatoid arthritis, Thrombocytopenia ORPHA:206572
Xp21 Deletion Syndrome
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:261476
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures OMIM:163200
Osteogenesis Imperfecta, Type Xv
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility OMIM:615220
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Mirage Syndrome
Radial club hand, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Lowry-Maclean Syndrome
Osteopenia, Osteoporosis, Craniosynostosis ORPHA:2409
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Perrault Syndrome 4
Osteoporosis OMIM:615300
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Wilson Disease
Hemolytic anemia, Osteomalacia, Joint hypermobility, Splenomegaly, Osteoarthritis, Osteoporosis, ... OMIM:277900
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduced bone mineral density, Ost... ORPHA:667
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Flexion contracture, Anemia, Leukopenia, Increased circulating IgM level, Bone marr... OMIM:617303
Immunodeficiency 40
Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombo... OMIM:616433
Congenital Myopathy 22A, Classic
Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger flexion contractures OMIM:620351
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... ORPHA:443811
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Reduced bone mineral density... ORPHA:94068
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Camptodactyly OMIM:608104
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Pathologic fracture, Knee flexion contracture OMIM:156400
Cholestasis-Lymphedema Syndrome
Splenomegaly, Bone pain, Reduced bone mineral density ORPHA:1414
Fanconi Anemia, Complementation Group C
Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutro... OMIM:227645
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... OMIM:305000
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Joint hypermobility, Increased susceptibility to fractures ORPHA:357058
Osteogenesis Imperfecta, Type Vi
Joint laxity, Increased susceptibility to fractures OMIM:613982
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Recurrent fractures, Craniosynostosis, Joint hypermobility, Accelerated skeletal matu... OMIM:245600
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia OMIM:611209
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Braddock-Carey Syndrome 1
Thrombocytopenia, Camptodactyly OMIM:619980
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture OMIM:614438
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Splenomegaly, Decreased circulating antibody level, Anemia,... ORPHA:540
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Arthrogryposis multiplex congenita, Craniosynostosis, Thrombocytopenia OMIM:301056
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Functioning Gonadotropic Adenoma
Osteopenia, Delayed skeletal maturation, Osteoporosis ORPHA:91348
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Generalized joint laxity, Increased susceptibility to fractures ORPHA:251028
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Splenomegaly, Achilles tendon contracture, Delayed skeletal maturation, R... ORPHA:404454
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Recurrent fractures, Anemia OMIM:239200
Nail-Patella Syndrome
Knee pain, Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contra... ORPHA:2614
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased pr... ORPHA:169160
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Delayed skeletal maturation, Osteoporosis, Camptodactyly ORPHA:432
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Vexas Syndrome
Arthritis, Macrocytic anemia, Thrombocytopenia OMIM:301054
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Adult-Onset Still Disease
Neutrophilia, Splenomegaly, Leukocytosis, Arthritis, Bone marrow hypocellularity ORPHA:829
Antley-Bixler Syndrome
Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Elbow ankylosis ORPHA:83
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Osteoporosis OMIM:610489
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Polyclonal elevation of I... ORPHA:171
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Delayed ossification of carpal bones, Eosinophilia, Decreased circulating antibody l... OMIM:617425
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Bone pain, Osteolysis, Synovitis... ORPHA:793
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Pulmonary fibrosis OMIM:608233
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Flexion contracture, Thrombocytopenia, Neutropenia OMIM:616271
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Osteoporosis, Joint hypermobility, Bicoronal synostosis OMIM:619718
Familial Papillary Or Follicular Thyroid Carcinoma
Bone pain, Recurrent fractures ORPHA:319487
Progressive Pseudorheumatoid Arthropathy Of Childhood
Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur... ORPHA:1159
Macs Syndrome
Joint laxity, Osteoporosis, Joint hypermobility OMIM:613075
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Pediatric Systemic Lupus Erythematosus
Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Rin2 Syndrome
Joint hypermobility, Increased susceptibility to fractures ORPHA:217335
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ... OMIM:259770
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Delayed skeletal maturation, Osteoporosis ORPHA:2326
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal p... ORPHA:1830
Cleidocranial Dysplasia
Spina bifida occulta, Decreased skull ossification, Osteoporosis, Recurrent fractures ORPHA:1452
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility ORPHA:363705
Ivic Syndrome
Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R... OMIM:147750
Alg8-Cdg
Thrombocytopenia, Anemia, Camptodactyly ORPHA:79325
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189427
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... OMIM:603553
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures OMIM:312150
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis... ORPHA:666
Cholesteryl Ester Storage Disease
Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop... OMIM:278000
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bo... ORPHA:1652
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Interstitial pneumonitis, Recurrent lower respiratory tract infections, Recurrent upper respirato... OMIM:615952
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Oligoarthritis OMIM:614204
Sarcoidosis
Abnormal cardiac ventricular function, Abnormal pleura morphology, Portal hypertension, Heart blo... ORPHA:797
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans OMIM:617241
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Bone pain, Joint hyperfl... ORPHA:955
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Delayed skeletal maturation, Fi... ORPHA:221008
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Cushing Disease
Leukocytosis, Osteoporosis, Avascular necrosis, Decreased eosinophil count, Lymphopenia ORPHA:96253
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoulder flexion contracture... OMIM:193700
Catastrophic Antiphospholipid Syndrome
Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Avascular necrosi... ORPHA:464343
Mucopolysaccharidosis, Type Ivb
Joint laxity, Osteoporosis, Joint stiffness OMIM:253010
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture OMIM:607278
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, ... ORPHA:581
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Irregular tarsal ossification OMIM:226980
Hereditary Sensory And Autonomic Neuropathy Type 1
Limb pain, Pathologic fracture, Osteomyelitis ORPHA:36386
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Dietary Iron Overload Disease
Osteoporosis ORPHA:139507
Cantú Syndrome
Delayed skeletal maturation, Osteoporosis, Accelerated skeletal maturation ORPHA:1517
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Wide anterior fontanel, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur... ORPHA:1900
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Mucopolysaccharidosis, Type Iva
Joint laxity, Osteoporosis OMIM:253000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Premature Aging Syndrome, Penttinen Type
Recurrent fractures, Delayed skeletal maturation, Osteoporosis, Osteolytic defects of the distal ... OMIM:601812
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Thrombocytopenia, Anemia OMIM:619743
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal pulmonary inters... ORPHA:781
Smith-Kingsmore Syndrome
Wide anterior fontanel, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures ORPHA:97290
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Increased circulating antibody level, Anemia OMIM:170100
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I... OMIM:615816
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Classic Pantothenate Kinase-Associated Neurodegeneration
Increased susceptibility to fractures ORPHA:216866
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Flexion contracture, Increased susceptibility to fractures OMIM:253290
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co... ORPHA:2671
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
X Small Rings
Joint laxity, Osteoporosis, Reduced bone mineral density ORPHA:96201
Recon Progeroid Syndrome
Joint laxity, Thrombocytopenia, Anemia OMIM:620370
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Prader-Willi Syndrome
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:739
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Maternal Uniparental Disomy Of Chromosome 6
Accelerated bone age after puberty, Thrombocytopenia ORPHA:96181
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Abnormal pulmonary interstitial morphology OMIM:617050
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join... OMIM:250250
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Osteoporosis OMIM:300998
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth... OMIM:608654
Richards-Rundle Syndrome
Joint stiffness, Reduced bone mineral density ORPHA:1399
Stuve-Wiedemann Syndrome 1
Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Camptodac... OMIM:601559
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Kallmann Syndrome
Delayed skeletal maturation, Recurrent fractures, Reduced bone mineral density ORPHA:478
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Sclerosis of skull base, Rheumatoid arthritis, Ne... OMIM:607944
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Joint hypermobility, Splenomegaly, Decreased circulating ant... OMIM:300972
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Congenital Insensitivity To Pain With Severe Intellectual Disability
Osteomyelitis, Recurrent fractures ORPHA:453510
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Joint hypermobility, Sagittal craniosynostosis, Generali... ORPHA:536471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... ORPHA:276
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... OMIM:614162
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Abscess, Increased circulating myelocyte count, Arthritis, Septic arthritis, Incre... ORPHA:36234
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Aromatase Deficiency
Osteopenia, Delayed epiphyseal ossification, Delayed skeletal maturation, Bone pain, Osteoporosis ORPHA:91
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Osteoporosis, Rad... ORPHA:536467
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Osteoporosis ORPHA:398079
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level ORPHA:169105
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia OMIM:619525
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Arthrogryposis multiplex congenita, Thrombocytopenia OMIM:208085
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Macrocephaly/Autism Syndrome
Joint laxity, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:619120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Familial Dysautonomia
Avascular necrosis, Recurrent fractures, Osteolysis ORPHA:1764
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Craniosynostosis, An... OMIM:620005
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:603467
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Osteoporosis, Osteolytic defects of the phalanges of the hand, Foot acr... OMIM:102500
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level,... ORPHA:227990
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis,... ORPHA:2072
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Tracheobronchomalacia, Recurrent fractures, Tracheomalacia ORPHA:140
Dpagt1-Cdg
Flexion contracture, Osteoporosis, Anemia, Camptodactyly ORPHA:86309
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest... ORPHA:747
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Mucolipidosis Ii Alpha/Beta
Osteopenia, Craniosynostosis, Splenomegaly, Limitation of joint mobility, Camptodactyly, Arthrogr... OMIM:252500
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Flexion contracture, Osteoporosis ORPHA:398069
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Lujo Hemorrhagic Fever
Stiff neck, Leukocytosis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Dubowitz Syndrome
Craniosynostosis, Abnormality of neutrophils, Wide anterior fontanel, Delayed skeletal maturation... ORPHA:235
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Bone pain OMIM:259900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, An... ORPHA:79408
Osteoglophonic Dysplasia
Osteopenia, Camptodactyly of finger, Craniosynostosis, Increased susceptibility to fractures OMIM:166250
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Prolactinoma
Osteopenia, Osteoporosis ORPHA:2965
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Glycerol Kinase Deficiency
Pathologic fracture, Osteoporosis OMIM:307030
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture ORPHA:171430
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level,... ORPHA:227982
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Increased circulati... ORPHA:505248
Brucellosis
Liver abscess, Lung abscess, Osteomyelitis, Hypersplenism, Thrombocytopenia, Leukocytosis, Spleno... ORPHA:1304
Glycogen Storage Disease Ia
Osteoporosis, Gout OMIM:232200
Shigellosis
Abscess, Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Splenic abscess, Thrombocyto... ORPHA:810
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Noonan Syndrome 4
Delayed skeletal maturation, Thrombocytopenia OMIM:610733
Menkes Disease
Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Joint hyperflexibility ORPHA:565
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation,... OMIM:130070
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Knobloch Syndrome 2
Recurrent respiratory infections, Patent ductus arteriosus, Abnormal pulmonary interstitial morph... OMIM:618458
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Glass Syndrome
Generalized osteoporosis, Camptodactyly OMIM:612313
Gaucher Disease, Perinatal Lethal
Splenomegaly, Hepatosplenomegaly, Anemia, Arthrogryposis multiplex congenita, Thrombocytopenia OMIM:608013
Primary Biliary Cholangitis
Increased circulating IgM level, Osteoporosis, Increased circulating IgA level ORPHA:186
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ... ORPHA:800
Frank-Ter Haar Syndrome
Osteopenia, Wide anterior fontanel, Osteoporosis, Camptodactyly, Cortical irregularity OMIM:249420
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Delayed skeletal maturation, Anemia, Camptodactyly ORPHA:261323
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger, Osteoporosis, Ma... ORPHA:2232
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Osteoporosis ORPHA:98754
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture OMIM:616866
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Prader-Willi Syndrome
Osteopenia, Osteoporosis OMIM:176270
Tbck-Related Intellectual Disability Syndrome
Delayed skeletal maturation, Osteoporosis ORPHA:488632
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Osteoporosis ORPHA:98793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Thrombocytopenia ORPHA:3320
Tick-Borne Encephalitis
Stiff neck, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:297
Hardikar Syndrome
Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocytopenia OMIM:301068
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Bone pain, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Osteoporosis ORPHA:177904
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Osteoporosis ORPHA:177901
Cerebrotendinous Xanthomatosis
Osteopenia, Osteoporosis, Increased susceptibility to fractures ORPHA:909
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Osteoporosis... OMIM:271640
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Chronic lymphatic leukemia, A... ORPHA:3243
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Recurrent fractures, Camptodactyly ORPHA:3063
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227646
Cockayne Syndrome B
Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the... OMIM:133540
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis, Oste... ORPHA:198
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Camptodactyly OMIM:616737
Kawasaki Disease
Pericarditis, Recurrent pharyngitis, Congestive heart failure, Vasculitis, Myocarditis, Abnormal ... ORPHA:2331
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Craniosynostosis, Limited elbow movement, Decreased proportion o... ORPHA:508533
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density OMIM:620232
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Osteomalacia, Joint stiffness, Thrombocytopenia, Joint hyperflexibility, Art... ORPHA:534
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Decreased circulating antibody leve... OMIM:615688
Primary Hyperoxaluria
Generalized osteosclerosis, Bone pain, Recurrent fractures ORPHA:416
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Osteoporosis, Joint laxity OMIM:225400
Generalized Pustular Psoriasis
Arthritis, Leukocytosis, Lymphopenia ORPHA:247353
Osteogenesis Imperfecta, Type Vii
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontanel, Decreased c... OMIM:610682
Brittle Cornea Syndrome 2
Recurrent fractures, Joint hypermobility OMIM:614170
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Anemia ORPHA:79404
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iib
Recurrent fractures, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Aspartylglucosaminuria
Joint laxity, Delayed skeletal maturation, Vacuolated lymphocytes, Neutropenia, Pathologic fracture OMIM:208400
Hallermann-Streiff Syndrome
Tracheomalacia, Recurrent fractures, Reduced bone mineral density ORPHA:2108
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Ar... OMIM:260920
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Exudative Vitreoretinopathy 1
Recurrent fractures OMIM:133780
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Occipital Horn Syndrome
Joint laxity, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Limited elbow extension OMIM:304150
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:168558
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity OMIM:607721
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:289548
Fusariosis
Brain abscess, Lung abscess, Osteomyelitis, Abnormality of the spleen, Arthritis, Granuloma, Neut... ORPHA:228119
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Bronchitis, Raynaud phenomenon, Nonproductive cough, Vasculit... ORPHA:289390
Roberts Syndrome
Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos... ORPHA:3103
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis ORPHA:254892
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Pathologic fracture OMIM:614231
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Arthritis ORPHA:536
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Joint laxity, Osteoporosis, Anemia ORPHA:438213
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Osteoporosis, Joint hypermobility ORPHA:536545
Cole-Carpenter Syndrome
Joint hyperflexibility, Recurrent fractures ORPHA:2050
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Flexion contracture, Limb joint contracture, Thrombocytopenia OMIM:301072
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circulating IgG level, Thr... ORPHA:2298
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... OMIM:256810
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Grange Syndrome
Recurrent fractures, Increased susceptibility to fractures OMIM:602531
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Marshall-Smith Syndrome
Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, Craniosynostosi... OMIM:602535
Cushing Syndrome Due To Ectopic Acth Secretion
Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis ORPHA:99889
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:90796
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia OMIM:251880
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Delayed skeletal maturation, Osteoporosi... ORPHA:2636
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Limited elbow movement, Osteoporosis, Joint hypermobility ORPHA:558
Cranioectodermal Dysplasia 1
Joint laxity, Osteoporosis, Sagittal craniosynostosis OMIM:218330
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Arthritis, Increased circulating antibody l... OMIM:615846
Hyperparathyroidism-Jaw Tumor Syndrome
Bone pain, Osteoporosis ORPHA:99880
Congenital Disorder Of Deglycosylation 1
Osteoporosis OMIM:615273
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Osteoporosis OMIM:203700
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Fus... OMIM:274000
Parathyroid Carcinoma
Bone pain, Osteoporosis ORPHA:143
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Arthritis, Incre... ORPHA:99826
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... ORPHA:274
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Osteoporosis ORPHA:365
Caroli Syndrome
Liver abscess, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:480520
17Q11 Microdeletion Syndrome
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones ORPHA:97685
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... OMIM:613658
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko... ORPHA:84
Kikuchi-Fujimoto Disease
Myocarditis, Vasculitis, Abnormal pulmonary interstitial morphology, Vasculitis in the skin, Pleu... ORPHA:50918
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures OMIM:618644
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Multiple Endocrine Neoplasia Type 1
Increased susceptibility to fractures, Osteolysis, Reduced bone mineral density ORPHA:652
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia, Arthritis OMIM:249100
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Leukocytosis, Septic arthritis, Thrombocytopenia ORPHA:544482
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Pulmonary interstitial lymphocyte infiltration, Recurrent respiratory infections OMIM:606367
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis ORPHA:91347
Agammaglobulinemia, X-Linked
Wheezing, Recurrent pneumonia, Bronchiectasis, Bronchiolitis obliterans, Recurrent sinusitis, Rec... OMIM:300755
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... ORPHA:699
Wolf-Hirschhorn Syndrome
Delayed skeletal maturation, Osteoporosis ORPHA:280
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han... OMIM:309000
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hyperextensibility of the finger joints, Anemia ORPHA:163979
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Cystic Fibrosis
Osteopenia, Osteoporosis ORPHA:586
Khan-Khan-Katsanis Syndrome
Joint contracture, Lymphopenia, Anemia, Neutropenia OMIM:618460
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Jacobsen Syndrome
Flexion contracture, Thrombocytopenia OMIM:147791
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Dysharmonic delayed bone age, Severe generalized osteoporosis, Knee flexion cont... OMIM:210730
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno... ORPHA:284984
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Flexion contracture, Increased mean platelet volume, Camptodactyly ORPHA:487796
Neurofibromatosis Type 1
Leukemia, Joint stiffness, Recurrent fractures, Chronic myelogenous leukemia ORPHA:636
Craniopharyngioma
Increased susceptibility to fractures ORPHA:54595
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Cornelia De Lange Syndrome 1
Delayed skeletal maturation, Limited elbow extension, Elbow flexion contracture, Thrombocytopenia OMIM:122470
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Stiff neck, Splenomegaly, Leukocytosis, Leukopenia, Increased circula... ORPHA:99827
46,Xy Partial Gonadal Dysgenesis
Delayed skeletal maturation, Osteoporosis ORPHA:251510
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Lower-limb joint contracture, Osteoporosis ORPHA:459070
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Increased circulating IgA level, Microcytic anemia, Splenomegaly, Flexio... OMIM:256040
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Deeah Syndrome
Decreased hemoglobin concentration, Delayed skeletal maturation, Thrombocytopenia OMIM:619004
Whim Syndrome
Decreased circulating antibody level, Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Hennekam Syndrome
Camptodactyly of finger, Craniosynostosis, Splenomegaly, Decreased circulating antibody level, Ly... ORPHA:2136
Keppen-Lubinsky Syndrome
Flexion contracture, Increased susceptibility to fractures ORPHA:435628
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Bone marrow hypocellularit... ORPHA:2968
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Microcytic anemia, Leukocytosis, Anemia, Abnormal isohemagglutinin level ORPHA:99843
Loeys-Dietz Syndrome 2
Joint laxity, Craniosynostosis, Osteoporosis, Camptodactyly, Joint contracture of the hand OMIM:610168
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:99413
Mosaic Monosomy X
Osteopenia, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteopenia, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:99226
Turner Syndrome
Osteopenia, Delayed skeletal maturation, Osteoporosis, Reduced bone mineral density ORPHA:881
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosynost... ORPHA:567
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia ORPHA:340
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory d... OMIM:233450
Yellow Fever
Increased circulating IgM level, Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Delayed skeletal matur... ORPHA:904
Primrose Syndrome
Hip contracture, Joint hypermobility, Flexion contracture, Osteoporosis, Reduced bone mineral den... OMIM:259050
Jacobsen Syndrome
Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, He... ORPHA:51
Ogden Syndrome
Wide anterior fontanel, Delayed skeletal maturation, Iron deficiency anemia, Polycythemia, Thromb... OMIM:300855
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Pathologic fracture, Wide anterior fontanel ORPHA:90349
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Flexion contracture, Osteoporosis, Radioulnar synostosis OMIM:194050
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion ORPHA:1546
Singleton-Merten Syndrome 1
Osteopenia, Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Increased circulating IgG4 level, Thrombocytopenia, Increased ci... ORPHA:79078
Liver Disease, Severe Congenital
Joint laxity, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Bronchiectasis, Bronchiolitis obliterans, Cough, Pleural effusio... ORPHA:99921
Pmm2-Cdg
Osteopenia, Joint laxity, Multiple joint contractures, Osteoporosis, Impaired neutrophil chemotaxis ORPHA:79318
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly ORPHA:731
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis OMIM:163950
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Acute Liver Failure
Thrombocytopenia ORPHA:90062
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Hypoplasia of the thymus, Thrombocytopenia OMIM:188400
Leptospirosis
Thrombocytopenia ORPHA:509
Mowat-Wilson Syndrome
Recurrent fractures, Asplenia, Delayed skeletal maturation, Flexion contracture, Decreased circul... ORPHA:2152

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Id1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Id1.

No publications found that use IMPC mice or data for Id1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Id1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter